MCID: WLL002
MIFTS: 48

Weill-Marchesani Syndrome

Categories: Rare diseases, Genetic diseases, Eye diseases, Bone diseases, Fetal diseases, Skin diseases

Aliases & Classifications for Weill-Marchesani Syndrome

MalaCards integrated aliases for Weill-Marchesani Syndrome:

Name: Weill-Marchesani Syndrome 12 23 50 24 25 56 29 42 14 69
Spherophakia-Brachymorphia Syndrome 50 25 56
Marchesani-Weill Syndrome 12 25
Gemss Syndrome 12 69
Wms 50 25
Weill-Marchesani Syndrome, Autosomal Recessive 69
Weill-Marchesani Syndrome, Autosomal Dominant 69
Mesodermal Dysmorphodystrophy, Congenital 12
Mesodermal Dysmorphodystrophy Congenital 50
Congenital Mesodermal Dysmorphodystrophy 25
Brachymorphy with Spherophakia Syndrome 25
Spherophakia Brachymorphia Syndrome 12
Brachydactyly-Spherophakia Syndrome 25
Congenital Mesodermal Dystrophy 12
Marchesani Syndrome 25
Wm Syndrome 50

Characteristics:

Orphanet epidemiological data:

56
weill-marchesani syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

GeneReviews:

23
Penetrance The penetrance in those with autosomal recessive wms caused by homozygous adamts10 mutations is thought to be 100%...

Classifications:



External Ids:

Disease Ontology 12 DOID:0050475
MeSH 42 D056846
NCIt 47 C85226
SNOMED-CT 64 205801004 2884008
Orphanet 56 ORPHA3449
MESH via Orphanet 43 D056846
UMLS via Orphanet 70 C0265313
ICD10 via Orphanet 34 Q87.0

Summaries for Weill-Marchesani Syndrome

NIH Rare Diseases : 50 weill-marchesani syndrome is an inheritedconnective tissue disorder that mainly affects the bones and eyes. people with this condition have short stature; short fingers; and limited joint movement, especially of the hands. weill-marchesani syndrome also causes abnormalities of the lens of the eye that lead to severe nearsightedness, and it can also cause glaucoma. occasionally patients with this condition have heart defects. in some families this condition is inherited in an autosomal recessive pattern and caused by mutations in the adamts10 or ltpbp2 genes. weill-marchesani syndrome can also have autosomal dominant inheritance, and a fbn1 gene mutation has been found in one family. people with this condition usually need regular eye exams and sometimes need eye surgery. last updated: 10/3/2013

MalaCards based summary : Weill-Marchesani Syndrome, also known as spherophakia-brachymorphia syndrome, is related to weill-marchesani syndrome 2, dominant and weill-marchesani syndrome 1, recessive, and has symptoms including short stature, glaucoma and cataract. An important gene associated with Weill-Marchesani Syndrome is LTBP2 (Latent Transforming Growth Factor Beta Binding Protein 2), and among its related pathways/superpathways are Phospholipase-C Pathway and Degradation of the extracellular matrix. Affiliated tissues include eye, bone and heart, and related phenotypes are Decreased viability and respiratory system

Disease Ontology : 12 An autosomal genetic disease characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.

Genetics Home Reference : 25 Weill-Marchesani syndrome is a disorder of connective tissue. Connective tissue forms the body's supportive framework, providing structure and strength to the muscles, joints, organs, and skin.

Wikipedia : 72 Weill–Marchesani syndrome is a rare genetic disorder characterized by short stature; an unusually short,... more...

GeneReviews: NBK1114

Related Diseases for Weill-Marchesani Syndrome

Diseases in the Weill-Marchesani Syndrome family:

Weill-Marchesani Syndrome 3, Recessive Weill-Marchesani Syndrome 2, Dominant
Weill-Marchesani-Like Syndrome Weill-Marchesani Syndrome 1, Recessive
Adamts10-Related Weill-Marchesani Syndrome Fbn1-Related Weill-Marchesani Syndrome
Ltbp2-Related Weill-Marchesani Syndrome

Diseases related to Weill-Marchesani Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
id Related Disease Score Top Affiliating Genes
1 weill-marchesani syndrome 2, dominant 12.5
2 weill-marchesani syndrome 1, recessive 12.5
3 weill-marchesani syndrome 3, recessive 12.5
4 fbn1-related weill-marchesani syndrome 12.2
5 ltbp2-related weill-marchesani syndrome 12.2
6 adamts10-related weill-marchesani syndrome 12.1
7 weill-marchesani-like syndrome 11.3
8 lymphoplasmacytic lymphoma 11.2
9 acromicric dysplasia 11.1
10 ectopia lentis, isolated, autosomal recessive 11.1
11 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 11.1
12 waldenstrom macroglobulinemia 11.1
13 macroglobulinemia, waldenstrom 1 11.1
14 williams-beuren syndrome 10.9
15 hypoplastic or aplastic tibia with polydactyly 10.8
16 c3 deficiency 10.5 ADAMTS10 LTBP2
17 webb-dattani syndrome 10.4 ADAMTS17 LTBP2
18 arthrogryposis, distal, with impaired proprioception and touch 10.3 FBN1 FBN2
19 geleophysic dysplasia 10.3
20 thrombocytopenia with or without dyserythropoietic anemia 10.3 FBN1 FBN2
21 eye disease 10.3 FBN1 FBN2
22 olecranon bursitis 10.3 FBN1 LTBP2
23 retinitis 10.2
24 breast-ovarian cancer, familial, 2 10.2 ADAMTS10 ADAMTS17
25 giant axonal neuropathy 10.1 ADAMTSL2 FBN1
26 not otherwise specified 3-mga-uria type 10.1 FBN1 TNF
27 popliteal pterygium syndrome 1 10.1 FBN1 FBN2
28 marfan syndrome 10.1
29 endotheliitis 10.1
30 retinitis pigmentosa 10.1
31 cervicitis 10.1
32 aortic disease 10.1
33 thyroiditis 10.1
34 clubfoot 10.0 ADAMTS10 ADAMTS17 FBN1
35 marfan lipodystrophy syndrome 10.0 FBN1 FBN2 LTBP2
36 jaffer beighton syndrome 10.0 ADAMTSL4 FBN1
37 central nervous system lymphoma 9.9 ADAMTS10 ADAMTSL2 FBN1
38 mastoiditis 9.9 ADAMTS6 FBN1
39 ulcer of lower limbs 9.9 ADAMTS10 ADAMTS17 ADAMTSL2
40 vaginal spindle cell epithelioma 9.8 FBN1 FBN2 TNF
41 polymicrogyria, bilateral frontoparietal 9.4 ADAMTSL4 FBN1
42 endemic typhus 6.5 ADAMTS10 ADAMTS17 ADAMTS6 ADAMTSL2 ADAMTSL4 FBN1

Graphical network of the top 20 diseases related to Weill-Marchesani Syndrome:



Diseases related to Weill-Marchesani Syndrome

Symptoms & Phenotypes for Weill-Marchesani Syndrome

Human phenotypes related to Weill-Marchesani Syndrome:

56 32 (show all 17)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 glaucoma 56 32 hallmark (90%) Very frequent (99-80%) HP:0000501
3 cataract 56 32 occasional (7.5%) Occasional (29-5%) HP:0000518
4 ventricular septal defect 56 32 occasional (7.5%) Occasional (29-5%) HP:0001629
5 intellectual disability, mild 56 32 occasional (7.5%) Occasional (29-5%) HP:0001256
6 pulmonic stenosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001642
7 short thumb 56 32 hallmark (90%) Very frequent (99-80%) HP:0009778
8 ectopia lentis 56 32 frequent (33%) Frequent (79-30%) HP:0001083
9 visual loss 56 32 occasional (7.5%) Occasional (29-5%) HP:0000572
10 mitral regurgitation 56 32 occasional (7.5%) Occasional (29-5%) HP:0001653
11 aortic valve stenosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001650
12 severe myopia 56 32 hallmark (90%) Very frequent (99-80%) HP:0011003
13 thickened skin 56 32 frequent (33%) Frequent (79-30%) HP:0001072
14 limitation of joint mobility 56 32 frequent (33%) Frequent (79-30%) HP:0001376
15 brachydactyly 32 hallmark (90%) HP:0001156
16 malformation of the heart and great vessels 56 Frequent (79-30%)
17 brachydactyly syndrome 56 Very frequent (99-80%)

UMLS symptoms related to Weill-Marchesani Syndrome:


joint stiffness

GenomeRNAi Phenotypes related to Weill-Marchesani Syndrome according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.17 ADAMTS17
2 Decreased viability GR00381-A-1 9.17 ADAMTS17 FBN3
3 Decreased viability GR00381-A-2 9.17 ADAMTS17 FBN3
4 Decreased viability GR00381-A-3 9.17 ADAMTS17 FBN3

MGI Mouse Phenotypes related to Weill-Marchesani Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 9.02 ADAMTSL2 FBN1 FBN2 LTBP2 TNF

Drugs & Therapeutics for Weill-Marchesani Syndrome

Search Clinical Trials , NIH Clinical Center for Weill-Marchesani Syndrome

Cochrane evidence based reviews: weill-marchesani syndrome

Genetic Tests for Weill-Marchesani Syndrome

Genetic tests related to Weill-Marchesani Syndrome:

id Genetic test Affiliating Genes
1 Weill-Marchesani Syndrome 29 24 LTBP2

Anatomical Context for Weill-Marchesani Syndrome

MalaCards organs/tissues related to Weill-Marchesani Syndrome:

39
Eye, Bone, Heart, Skin, Endothelial, Thyroid

Publications for Weill-Marchesani Syndrome

Articles related to Weill-Marchesani Syndrome:

(show top 50) (show all 58)
id Title Authors Year
1
Cervical artery dissection expands the cardiovascular phenotype in FBN1-related Weill-Marchesani syndrome. ( 28696036 )
2017
2
Acute angle-closure glaucoma in a highly myopic patient secondary to Weill-Marchesani syndrome: histopathologic lens features. ( 26966104 )
2016
3
Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction: a case report and literature review. ( 25571963 )
2015
4
Golden ring in the eyes: Weill-Marchesani syndrome. ( 26009607 )
2015
5
Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome. ( 25469541 )
2014
6
Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome. ( 24940034 )
2014
7
More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia. ( 24039088 )
2013
8
Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome. ( 23897642 )
2013
9
Similarity of geleophysic dysplasia and Weill-Marchesani syndrome. ( 24214363 )
2013
10
Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions. ( 23133647 )
2012
11
Weill- Marchesani syndrome: a rare case report. ( 22864047 )
2012
12
Anaesthetic management of a patient with Weill-Marchesani syndrome complicated with mitral regurgitation. ( 22013276 )
2011
13
Corneal microstructural analysis in weill-marchesani syndrome by in vivo confocal microscopy. ( 21687566 )
2011
14
Retinal vascular tortuosity in a patient with weill-marchesani syndrome. ( 22606482 )
2011
15
Case report of two sisters suffering from Weill-Marchesani syndrome with pulmonary stenosis. ( 22569327 )
2010
16
Biometric and corneal topographic characteristics in patients with Weill-Marchesani syndrome. ( 19465288 )
2009
17
Weill Marchesani syndrome with chronic angle closure glaucoma in Ethiopia: a case report. ( 19743786 )
2009
18
Functional analysis of an ADAMTS10 signal peptide mutation in Weill- Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme. ( 18567016 )
2008
19
A case of Weill-Marchesani syndrome with inversion of chromosome 15. ( 18063893 )
2007
20
Cardiac findings in Weill-Marchesani syndrome. ( 17663475 )
2007
21
Weill-Marchesani syndrome associated with retinitis pigmentosa. ( 17322607 )
2007
22
Homatropine and psychosis in Weill-Marchesani syndrome. ( 16832313 )
2006
23
Long-term complications of iris-claw phakic intraocular lens implantation in Weill-Marchesani syndrome. ( 16633042 )
2006
24
Central corneal thickness in patients with Weill-Marchesani syndrome. ( 16935606 )
2006
25
Weill-Marchesani syndrome. ( 16761646 )
2006
26
Anesthetic characteristics and airway evaluation of patients with Weill-Marchesani syndrome. ( 16749567 )
2006
27
Weill-Marchesani syndrome and secondary glaucoma associated with ectopia lentis. ( 16494613 )
2006
28
Autosomal dominant Weill-Marchesani syndrome and glaucoma management. ( 16155673 )
2005
29
Tumour necrosis factor alpha, lipid peroxidation and NO* are increased and associated with decreased free-radical scavenging enzymes in patients with Weill-Marchesani syndrome. ( 15223607 )
2004
30
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. ( 15368195 )
2004
31
Two patients with Weill-Marchesani syndrome and mitral stenosis. ( 17670292 )
2004
32
In frame fibrillin-1 gene deletion in autosomal dominant Weill- Marchesani syndrome. ( 12525539 )
2003
33
Airway management of a patient with Weill-Marchesani syndrome. ( 12770659 )
2003
34
Anesthetic management of a patient with Weill-Marchesani syndrome. ( 12648208 )
2003
35
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. ( 14598350 )
2003
36
Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2. ( 11941487 )
2002
37
Exclusion of chromosome 15q21.1 in autosomal-recessive Weill-Marchesani syndrome in an inbred Lebanese family. ( 11149617 )
2000
38
Weill-Marchesani syndrome in three generations. ( 10707143 )
1999
39
Capsular tension ring in a patient with Weill-Marchesani syndrome. ( 9719980 )
1998
40
Ciliary body is not hyperplastic in Weill-Marchesani syndrome. ( 9826054 )
1998
41
Weill-Marchesani syndrome: report of an unusual case. ( 9075633 )
1997
42
Weill-Marchesani syndrome complicated by secondary glaucoma. Case management with surgical lens extraction. ( 8913132 )
1996
43
Weill-Marchesani syndrome--possible linkage of the autosomal dominant form to 15q21.1. ( 8914744 )
1996
44
Weill-Marchesani syndrome. ( 8635842 )
1995
45
Histopathological study of microspherophakia in the Weill-Marchesani syndrome. ( 7643490 )
1995
46
Weill-Marchesani Syndrome ( 20301293 )
1993
47
Argon laser peripheral iridoplasty for angle-closure glaucoma in sibilings with weill-marchesani syndrome. ( 18079651 )
1992
48
The Weill-Marchesani syndrome: report of two cases and a review. ( 2277226 )
1990
49
Histology of the lens in the Weill-Marchesani syndrome. ( 2285689 )
1990
50
Weill-Marchesani syndrome in mother and son. ( 3493095 )
1986

Variations for Weill-Marchesani Syndrome

ClinVar genetic disease variations for Weill-Marchesani Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FBN1 NM_000138.4(FBN1): c.4675_4718del44 (p.Lys1559Leufs) deletion Likely pathogenic rs727503056 GRCh37 Chromosome 15, 48760164: 48760207

Expression for Weill-Marchesani Syndrome

Search GEO for disease gene expression data for Weill-Marchesani Syndrome.

Pathways for Weill-Marchesani Syndrome

GO Terms for Weill-Marchesani Syndrome

Cellular components related to Weill-Marchesani Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.65 ADAMTS10 FBN1 FBN2 FBN3 LTBP2
2 extracellular region GO:0005576 9.65 ADAMTS10 ADAMTS17 ADAMTS6 ADAMTSL2 ADAMTSL4 FBN1
3 microfibril GO:0001527 9.33 ADAMTS10 FBN1 FBN2
4 proteinaceous extracellular matrix GO:0005578 9.28 ADAMTS10 ADAMTS17 ADAMTS6 ADAMTSL2 ADAMTSL4 FBN1

Biological processes related to Weill-Marchesani Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.65 ADAMTS10 ADAMTS17 ADAMTS6 ADAMTSL2 ADAMTSL4
2 camera-type eye development GO:0043010 9.37 FBN1 FBN2
3 extracellular matrix organization GO:0030198 9.35 ADAMTSL2 ADAMTSL4 FBN1 FBN2 TNF
4 embryonic eye morphogenesis GO:0048048 9.32 FBN1 FBN2
5 sequestering of TGFbeta in extracellular matrix GO:0035583 9.16 FBN1 FBN2
6 regulation of cellular response to growth factor stimulus GO:0090287 8.8 FBN1 FBN2 FBN3

Molecular functions related to Weill-Marchesani Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 zinc ion binding GO:0008270 9.71 ADAMTS10 ADAMTS17 ADAMTS6 ADAMTSL2
2 calcium ion binding GO:0005509 9.67 FBN1 FBN2 FBN3 LTBP2
3 metallopeptidase activity GO:0008237 9.5 ADAMTS10 ADAMTS17 ADAMTS6
4 extracellular matrix structural constituent GO:0005201 9.43 FBN1 FBN2 FBN3
5 peptidase activity GO:0008233 9.35 ADAMTS10 ADAMTS17 ADAMTS6 ADAMTSL2 ADAMTSL4
6 extracellular matrix constituent conferring elasticity GO:0030023 9.16 FBN1 FBN2
7 metalloendopeptidase activity GO:0004222 8.92 ADAMTS10 ADAMTS17 ADAMTS6 ADAMTSL2

Sources for Weill-Marchesani Syndrome

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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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31 HMDB
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33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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43 MESH via Orphanet
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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